Canonical Allele Identifier: CA349406456

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530373-T-G
• MyVariant Identifiers: chr2:g.179395100T>G (hg19) ; chr2:g.178530373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530373T>G , CM000664.2:g.178530373T>G	GRCh38
NC_000002.11:g.179395100T>G , CM000664.1:g.179395100T>G	GRCh37
NC_000002.10:g.179103346T>G	NCBI36
NG_011618.3:g.305430A>C , LRG_391:g.305430A>C
NG_051363.1:g.12547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98538A>C (TTN)	ENSP00000343764.6:p.Glu32846Asp
ENST00000342175.11:c.79623A>C (TTN)	ENSP00000340554.6:p.Glu26541Asp
ENST00000359218.10:c.79422A>C (TTN)	ENSP00000352154.5:p.Glu26474Asp
ENST00000342175.10:c.79623A>C (TTN)	ENSP00000340554.6:p.Glu26541Asp
ENST00000342992.10:c.98538A>C (TTN)	ENSP00000343764.6:p.Glu32846Asp
ENST00000359218.9:c.79422A>C (TTN)	ENSP00000352154.5:p.Glu26474Asp
ENST00000460472.6:c.79047A>C (TTN)	ENSP00000434586.1:p.Glu26349Asp
ENST00000589042.5:c.106242A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35414Asp
ENST00000591111.5:c.101319A>C (TTN)	ENSP00000465570.1:p.Glu33773Asp
ENST00000615779.4:c.101319A>C (TTN)	ENSP00000483597.1:p.Glu33773Asp
NM_001256850.1:c.101319A>C (TTN)	NP_001243779.1:p.Glu33773Asp
NM_001267550.2:c.106242A>C (TTN) MANE Select	NP_001254479.2:p.Glu35414Asp
NM_003319.4:c.79047A>C (TTN)	NP_003310.4:p.Glu26349Asp
NM_133378.4:c.98538A>C (TTN)	NP_596869.4:p.Glu32846Asp
NM_133432.3:c.79422A>C (TTN)	NP_597676.3:p.Glu26474Asp
NM_133437.4:c.79623A>C (TTN)	NP_597681.4:p.Glu26541Asp
NR_038271.1:n.446+6737T>G (TTN-AS1)
NR_038272.1:n.220-5359T>G (TTN-AS1)
XM_011511729.1:c.105339A>C (TTN)	XP_011510031.1:p.Glu35113Asp
XM_011511730.1:c.79233A>C (TTN)	XP_011510032.1:p.Glu26411Asp
XM_011511731.1:c.79092A>C (TTN)	XP_011510033.1:p.Glu26364Asp
XM_017004819.1:c.105135A>C (TTN)	XP_016860308.1:p.Glu35045Asp
XM_017004820.1:c.100533A>C (TTN)	XP_016860309.1:p.Glu33511Asp
XM_017004821.1:c.100530A>C (TTN)	XP_016860310.1:p.Glu33510Asp
XM_017004822.1:c.97572A>C (TTN)	XP_016860311.1:p.Glu32524Asp
XM_017004823.1:c.79188A>C (TTN)	XP_016860312.1:p.Glu26396Asp
XM_024453094.1:c.100683A>C (TTN)	XP_024308862.1:p.Glu33561Asp
XM_024453095.1:c.100680A>C (TTN)	XP_024308863.1:p.Glu33560Asp
XM_024453096.1:c.100113A>C (TTN)	XP_024308864.1:p.Glu33371Asp
XM_024453097.1:c.97455A>C (TTN)	XP_024308865.1:p.Glu32485Asp
XM_024453098.1:c.97374A>C (TTN)	XP_024308866.1:p.Glu32458Asp
XM_024453099.1:c.79137A>C (TTN)	XP_024308867.1:p.Glu26379Asp
XM_024453100.1:c.68991A>C (TTN)	XP_024308868.1:p.Glu22997Asp